Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphorylation and multiple mtDNA deletions frequently in skeletal muscle. We studied four ethnically distinct families affected with this apparently autosomal recessive disorder. Probands from each family were shown, by Southern blot, to have multiple mtDNA deletions in skeletal muscle. We mapped the MNGIE locus to 22q13.32-qter, distal to D22S1161, with a maximum two-point LOD score of 6.80 at locus D22S526. Cosegregation of MNGIE with a single chromosomal region in families with diverse ethnic backgrounds suggests that we have mapped an important locus for this disorder. We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase.
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PMID:Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. 968 10

A quantitative analytical method using gas chromatography/mass spectrometry (GC/MS) to determine urinary concentrations of eight progesterones and corticosteroids has been developed. After enzymatic hydrolysis with beta-glucouronidase/arylsulfatase, urine samples were extracted by simple one-step solid-phase extraction. Obtained extracts were derivatized with a mixture of N-methyl-N-(trimethylsilyl)trifluoroacetamide/ammonium iodide/dithiothreitol and determined by GC/MS in selected ion monitoring mode to increase the sensitivity. d(4)-Cortisol and d(9)-progesterone were used as internal standards for two different steroid groups. The linear correlation coefficient was in the range of 0.9913 to 0.9998 and recoveries were over 80% for all compounds. Precision and accuracy were in the range of 0.9-18.1 and 84.1-118.7%, respectively. The limit of quantitation (LOQ) was 10 ng/mL for 11-deoxycorticosterone and 21-deoxycortisol and 5 ng/mL for all other analytes. The developed method was successfully applied on pelvic organ prolapsed patients (n = 10, age: 67.9 +/- 4.9) and post-menopausal (n = 10, age: 63.6 +/- 5.5) control women. Urinary levels of most progesterones and corticosteroids except 11-deoxycorticosterone decreased but only that of 17 alpha-hydroxyprogesterone significantly decreased in patients compared with the control groups. Thus, it is concluded that progesterones could be a factor in the pathogenesis of pelvic organ prolapse, and, among them, 17 alpha-hydroxyprogesterone could be a biomarker for pelvic organ prolapse.
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PMID:Quantitative determination of progesterones and corticosteroids in human urine using gas chromatography/mass spectrometry: application to pelvic organ prolapse patients. 1832 May 50